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Article

Phenotypic overlap between Blepharo-naso-facial syndrome and Nablus mask-like syndrome. Report from the first Indian family.

Ophthalmic genetics - 1 Jan 2000

Sachdev Manav, Rastogi Anju, Singh Ankur, Kumar Kamlesh, Kapoor Seema, Bansal Yuvika, Goel Shilpa

Abstract excerpt

We describe two siblings with epiphora, telecanthus, expressionless face, thick facial skin, bulky nose and profound sensorineural hearing loss. Constellation of these features presented a phenotypic overlap with Blepharo-naso-facial syndrome (BNFS) and Nablus mask-like syndrome (NMLS). They in addition had posterior helical pits. The molecular basis of NMLS is known, while BNFS remains an elusive disorder. We...

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Identifiers

PMID: 22697357
DOI: 10.3109/13816810.2012.695423

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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